Canonical Allele Identifier: CA349862506

Gene: COL5A2

Linked Data

• dbSNP Id: rs1308079246
• gnomAD v4: 2-189045823-C-G
• MyVariant Identifiers: chr2:g.189910549C>G (hg19) ; chr2:g.189045823C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189045823C>G , CM000664.2:g.189045823C>G	GRCh38
NC_000002.11:g.189910549C>G , CM000664.1:g.189910549C>G	GRCh37
NC_000002.10:g.189618794C>G	NCBI36
NG_011799.1:g.139057G>C
NG_011799.2:g.139057G>C
NG_011799.3:g.184479G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374866.9:c.3286G>C MANE Select	ENSP00000364000.3:p.Asp1096His
ENST00000374866.7:c.3286G>C	ENSP00000364000.3:p.Asp1096His
ENST00000618828.1:c.2125G>C	ENSP00000482184.1:p.Asp709His
NM_000393.3:c.3286G>C	NP_000384.2:p.Asp1096His
XM_011510573.1:c.3148G>C	XP_011508875.1:p.Asp1050His
NM_000393.4:c.3286G>C	NP_000384.2:p.Asp1096His
XM_011510573.3:c.3148G>C	XP_011508875.1:p.Asp1050His
NM_000393.5:c.3286G>C MANE Select	NP_000384.2:p.Asp1096His